Associated Papers
Molecular analysis of RAX2-regulated retinal development using human retinal organoids at a single-cell resolution.
Wang S et al.
Frontiers in Cell and Developmental Biology, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Van de Sompele S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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